SPARQL | HTML5 RDFa and Microdata document
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  • https://identifiers.org/wikipathways/WP1859
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/ComplexBinding/bb663
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/ComplexBinding/ecf19
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/WP/Interaction/f65f5
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/WP/Interaction/id1de27818
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/WP/Interaction/id402880c8
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/WP/Interaction/id874785eb
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • http://rdf.wikipathways.org/Pathway/WP5223_r134551/WP/Interaction/ida4b0d85a
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP5223_r134551
    • http://www.w3.org/1999/02/22-rdf-syntax-ns#type
      • http://vocabularies.wikipathways.org/wp#Pathway
      • http://www.w3.org/2004/02/skos/core#Collection
    • http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
      • http://purl.obolibrary.org/obo/DOID_0060429
      • http://purl.obolibrary.org/obo/DOID_0060388
    • http://vocabularies.wikipathways.org/wp#isAbout
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    • http://vocabularies.wikipathways.org/wp#ontologyTag
      • http://purl.obolibrary.org/obo/PW_0000013
      • http://vocabularies.wikipathways.org/wp#Curation:ONTOX
      • http://purl.obolibrary.org/obo/DOID_0060429
      • http://purl.obolibrary.org/obo/DOID_0060388
      • http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
      • http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
    • http://vocabularies.wikipathways.org/wp#organism
      • http://purl.obolibrary.org/obo/NCBITaxon_9606
    • http://vocabularies.wikipathways.org/wp#organismName
      • Homo sapiens
    • http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
      • http://purl.obolibrary.org/obo/PW_0000013
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      • https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=png&pwTitle=Pathway:WP5223&oldid=134551
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      • https://identifiers.org/wikipathways/WP5223
    • http://purl.org/dc/elements/1.1/source
      • WikiPathways
    • http://purl.org/dc/elements/1.1/title
      • 2q21.1 copy number variation syndrome
    • http://purl.org/dc/terms/description
      • The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion.
    • http://purl.org/dc/terms/identifier
      • WP5223
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      • https://identifiers.org/pubmed/24591035
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      • https://identifiers.org/pubmed/24591035
      • https://identifiers.org/pubmed/11956313
      • https://identifiers.org/pubmed/12598901
      • https://identifiers.org/pubmed/10947987
      • https://identifiers.org/pubmed/23921553
      • https://identifiers.org/pubmed/24251807
      • https://identifiers.org/pubmed/22771904
      • https://identifiers.org/pubmed/20716133
  • https://identifiers.org/chebi/CHEBI:17552
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  • https://identifiers.org/chebi/CHEBI:18348
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      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000134982
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000136002
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP428
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP51
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000161973
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000104435
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      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000115762
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000152102
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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      • https://identifiers.org/wikipathways/WP5223_r134551
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      • https://identifiers.org/wikipathways/WP5223_r134551
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      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000188219
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/ensembl/ENSG00000223631
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
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      • https://identifiers.org/wikipathways/WP5223_r134551
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP1471
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      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP2652
    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5223_r134551
  • https://identifiers.org/wikipathways/WP5223
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